People / Staff

Janet Hoenicka

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Publications

  • Luque J, Mendes I, Gómez B, Morte B, de Heredia ML, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch-Iriberri R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F, CIBERER Network and Lapunzina P.

    CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative

    CLINICAL GENETICS . 101(5-6): 481-493. Number of citations: 12

    [doi:10.1111/cge.14113]

  • Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M and Spain_PD consortium.

    Smoking is associated with age at disease onset in Parkinson's disease

    PARKINSONISM & RELATED DISORDERS . 97: 79-83. Number of citations: 4

    [doi:10.1016/j.parkreldis.2022.03.005]

  • Vela-Desojo L, Urso D, Osuna-Lopez M and Hoenicka J.

    Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review

    Journal of Clinical Medicine . 11(6): . Number of citations: 2

    [doi:10.3390/jcm11061590]

  • Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.

    The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Number of citations: 5

    [doi:10.1016/j.ejmg.2022.104442]

  • Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

    FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Number of citations: 15

    [doi:10.3389/fnins.2022.784880]

  • Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.

    Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease

    Journal of Translational Genetics and Genomics . 6(3): 333-352. Number of citations: 6

    [doi:10.20517/jtgg.2022.04]

  • Casas-Alba D, Hoenicka J, Vilanova-Adell A, Vega-Hana L, Pijuan-Marquilles J and Palau F.

    Diagnostic strategies in patients with undiagnosed and rare diseases

    Journal of Translational Genetics and Genomics . 6(3): 322-332. Number of citations: 3

    [doi:10.20517/jtgg.2022.03]

  • von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faltera F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG and Thorstensen WM.

    Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(1): 272-282. Number of citations: 9

    [doi:10.1002/ajmg.a.62492]

  • Storm CS, Kia DA, Almramhi MM, Bandres-Ciga S, Finan C, Hingorani AD and Wood NW.

    Finding genetically-supported drug targets for Parkinson's disease using Mendelian randomization of the druggable genome

    NATURE COMMUNICATIONS . 12(1): 7342-7342. Number of citations: 138

    [doi:10.1038/s41467-021-26280-1]

  • Nuevo-Tapioles C, Santacatterina F, Sánchez-Garrido B, Arenas CN, Robledo-Bérgamo A, Martínez-Valero P, Cantarero-Abad L, Pardo B, Hoenicka J, Murphy MP, Satrústegui J, Palau F and Cuezva JM.

    Effective therapeutic strategies in a preclinical mouse model of Charcot-Marie-Tooth disease

    HUMAN MOLECULAR GENETICS . 30(24): 2441-2455. Number of citations: 7

    [doi:10.1093/hmg/ddab207]